ClinVar Miner

List of variants studied for metachondromatosis by Phosphorus, Inc.

Included ClinVar conditions (3):

Metachondromatosis
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1
Noonan syndrome 1; Metachondromatosis; LEOPARD syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys)	rs191525506	0.00001
NM_002834.5(PTPN11):c.1599+4C>A	rs142606486
NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala)	rs1555267825

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